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Showing articles 0 to 37 of 37

Filter Applied: hepatosplenomegaly (Click to remove)

Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995

Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Lancet 390:1758-1768, Ory, D.S.,et al, 2017

Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
J Pediatr 123:242-247, Kelly,D.A.,et al, 1993

Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992

Wilson Disease:Clinical Presentation, Treatment, and Survival
Ann Int Med 115:720-726, Stremmel,W.,et al, 1991

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977

Case Records of MGH-NEJM 286:1047
1972 Progressive Multifocal Leukoencephalopathy., , 1972

Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022

Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021

Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014

Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

A Tourist With Dengue Fever and Visual Loss
Lancet 360:1070, Haritoglou,C.,et al, 2002

Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998

POEMS Syndrome:A Study of 25 Cases and a Review of the Literature
Am J Med 97:543-553, Soubrier,M.J.,et al, 1994

Clinicopath Conf
PEOMS Syndrome, Case 39-1992, NEJM 327:1014-1021992., , 1992

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992

Progressive Rubella Panencephalitis
In Handbk of Clin Neurol, Vinken & Bruyn, Ed, N Holland Publ Co, 56:405-416, Wolinsky,J.S., 1990

Histoplasma Capsulatum Infections of the Central Nervous System
Medicine 69:244-260, Wheat,L.J.,et al, 1990

Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989

Human Leptospirosis-A Review of 50 Cases
Infection 17:10-14, Lecour,H.,et al, 1989

Clinicopath. Conference
Acquired Immunodeficiency Syndrome, Rhabdomyosarcoma, with Extensive Metastases, Case 9-1986, NEJM 3, 4:620,1986., 1986

GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985

Intravascular Malignant Histiocytosis Mimicking CNS Vasculitis:An Immunopath. Diag. Approach
Ann Neurol 12:489-492, Krieger,C.,et al, 1982

Plasma Cell Dyscrasia with Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, & Skin Changes:The POEMS Syndrome
Medicine 59:311-322, Bardwick,P.A., 1980

Familial Psychosis & Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
Arch Neurol 36:95-99, Neil,J.F.,et al, 1979

DiGeorge Syndrome Associated with Glioma & Two Kinds of Viral Infection
NEJM 296"1235, Asamoto,H., 1977

The J. Burns Amberson Lecture-Pulmonary Angiitis & Granulomatosis
Amer Review of Resp Dis 108:1, Liebow,A., 1973

Mollaret's Meningitis & Differential Diagnosis of Recurrent Meningitis
Am J Med 52:128, Hermans,P.,et al, 1972

The Natural History of SLE by Prospective Analysis
Medicine 50:85, Estes,D.,et al, 1971

Neurologic Syndrome Associated With Primary Thrombocythemia
J Mt Siami Hosp 36:317-323, Korenman,G., 1969



Showing articles 0 to 37 of 37